Version 0.149
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
|
Sources
|
Version 0.65
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- ClinGen
- Expert Review Green
- Other
Phenotypes
- DNMT1 Methylopathy
- ORPHA314404
- OMIM 604121
- autosomal dominant cerebellar ataxia, deafness and narcolepsy
|
Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.7
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy, hereditary sensory, type IE, 614116
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
- CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
- ADCADN
|
Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neuropathy, hereditary sensory, type IE 614116
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Dementia, Deafness, and Sensory Neuropathy
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
- Neuropathy, hereditary sensory, type IE, 614116
- CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
- ADCADN
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Neuropathy, hereditary sensory, type IE, 614116
- Neuropathy, hereditary sensory, type IE, 614116
- Dementia, Deafness, and Sensory Neuropathy
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.40
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- hearing loss
- Dementia, Deafness, and Sensory Neuropathy
- Neuropathy, hereditary sensory, type IE, 614116
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
- Neuropathy, hereditary sensory, type IE
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
- Cerebellar ataxia, deafness and narcolepsy, 604121
- Hereditary sensory neuropathy type IE, 614116
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Dementia, Deafness, and Sensory Neuropathy
- Neuropathy, hereditary sensory, type IE, 614116
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
- Neuropathy, hereditary sensory, type IE, 614116
|